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https://www.readbyqxmd.com/read/28641212/association-of-gene-polymorphisms-of-four-components-of-renin-angiotensin-aldosterone-system-and-preeclampsia-in-south-african-black-women
#1
M Aung, T Konoshita, J Moodley, P Gathiram
OBJECTIVE: To investigate the association of the gene polymorphisms of: angiotensinogen (AGT), renin (REN), angiotensin II receptor 1 (AT1R) and angiotensin II receptor 2 (AT2R), in the pathogenesis of PE in South African Black women. METHODOLOGY (STUDY DESIGN): 603 pregnant women; 246 normotensive and 357 with PE (early-onset=187, late-onset=170), were recruited. Each study group was subdivided into HIV infected and uninfected groups. The distribution and frequencies of gene polymorphisms of AGT (M235T), REN (C-5312T), AT1R (A1166C) and AT2R (C3123A) were determined in purified DNA by Real Time Polymerase Chain Reaction...
May 18, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28641195/biotransformation-in-the-zebrafish-embryo-temporal-gene-transcription-changes-of-cytochrome-p450-enzymes-and-internal-exposure-dynamics-of-the-ahr-binding-xenobiotic-benz-a-anthracene
#2
Agnes Kühnert, Carolina Vogs, Bettina Seiwert, Silke Aulhorn, Rolf Altenburger, Henner Hollert, Eberhard Küster, Wibke Busch
Not much is known about the biotransformation capability of zebrafish (Danio rerio) embryos. For understanding possible toxicity differences to adult fish, it might be crucial to understand the biotransformation of chemicals in zebrafish embryos i.e. as part of toxicokinetics. The biotransformation capabilities were analysed for two different stages of zebrafish embryos in conjunction with the internal concentrations of a xenobiotic. Zebrafish embryos of the late cleavage/early blastula period (2-26 hpf) and the early pharyngula period (26-50 hpf) were exposed for 24 h to the AhR binding compound benz[a]anthracene (BaA)...
June 19, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28641170/efficacy-and-safety-of-eslicarbazepine-acetate-monotherapy-for-partial-onset-seizures-experience-from-a-multicenter-observational-study
#3
Rafael Toledano, Camilo Espinosa Jovel, Adolfo Jiménez-Huete, Pau Giner Bayarri, Dulce Campos, Elena López Gomariz, Beatriz González Giráldez, Irene García-Morales, Mercé Falip, Paula Martínez Agredano, Susana Palao, María José Aguilar Amat Prior, María Rosa Querol Pascual, Francisco José Navacerrada, Francisco Javier López González, Joaquín Ojeda, Aránzazu Alfaro Sáez, Pedro Emilio Bermejo, Antonio Gil-Nagel
Eslicarbazepine acetate (ESL, Aptiom™) is a once-daily anticonvulsant, approved as adjunctive treatment of partial-onset seizures (POS). Historical-controlled trials investigating the use of ESL as monotherapy have demonstrated a favorable efficacy and tolerability profile in patients with POS. This prospective, non-interventional study recruited POS patients in 17 hospitals in Spain. After a 3-month baseline period, ESL therapy was initiated as 400mg QD and up-titrated to an optimal maintenance dose based on clinical response and tolerance...
June 19, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28640860/the-path-to-specialist-multidisciplinary-care-in-amyotrophic-lateral-sclerosis-a-population-based-study-of-consultations-interventions-and-costs
#4
Miriam Galvin, Padhraig Ryan, Sinead Maguire, Mark Heverin, Caoifa Madden, Alice Vajda, Charles Normand, Orla Hardiman
BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a devastating neurological condition that requires coordinated, multidisciplinary clinical management. ALS is prone to misdiagnosis as its signs and symptoms may be non-specific, which may prolong patients' journey to multidisciplinary ALS care. METHODS: Using chart review and national register data, we have detailed the journey of a national cohort of ALS patients (n = 155) from the time of first symptom to presentation at a multidisciplinary clinic (MDC)...
2017: PloS One
https://www.readbyqxmd.com/read/28640793/intraoperative-computed-tomography-ct-for-treating-giant-carotid-intracavernous-aneurysms
#5
Zhe Xue, Fuyu Wang, Zhenghui Sun, Hui Zhang, Chen Wu, Dongsheng Kong, Bainan Xu
BACKGROUND Giant carotid intracavernous aneurysm refers to those lesions larger than 2.5 cm and derived from a cavernous segment, accounting for about 30% of all intracranial tumors. Dynamic CT perfusion imaging (PCT) is a common method recently employed to evaluate cerebral perfusion. This study investigated the efficacy and clinical application of intraoperative CT in the surgery for giant symptomatic carotid intracavernous aneurysm. MATERIAL AND METHODS A retrospective analysis was performed on 23 cases with giant symptomatic carotid intracavernous aneurysm...
June 22, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28637076/-clinical-course-of-an-early-childhood-onset-granulomatosis-with-polyangiitis
#6
Marco Krasselt, Matthias Pierer, Kerstin Amann, Anette Bachmann, Tom H Lindner
History A 26-year-old male patient presented with an eight-week history of unspecific symptoms such as weight loss and fever. Besides, he also suffered from haemoptysis, cough, and arthralgia. Since the age of twelve years, the patient has been treated for Wegner's granulomatosis. At the age of 20 years he received a kidney transplant which failed only four years later. Investigations The relapse we clinically suspected was confirmed by CT scan showing bilateral pulmonary manifestations. Moreover, we found highly positive antibodies against proteinase 3...
June 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28636844/clonal-hematopoiesis-and-risk-of-atherosclerotic-cardiovascular-disease
#7
Siddhartha Jaiswal, Pradeep Natarajan, Alexander J Silver, Christopher J Gibson, Alexander G Bick, Eugenia Shvartz, Marie McConkey, Namrata Gupta, Stacey Gabriel, Diego Ardissino, Usman Baber, Roxana Mehran, Valentin Fuster, John Danesh, Philippe Frossard, Danish Saleheen, Olle Melander, Galina K Sukhova, Donna Neuberg, Peter Libby, Sekar Kathiresan, Benjamin L Ebert
Background Clonal hematopoiesis of indeterminate potential (CHIP), which is defined as the presence of an expanded somatic blood-cell clone in persons without other hematologic abnormalities, is common among older persons and is associated with an increased risk of hematologic cancer. We previously found preliminary evidence for an association between CHIP and atherosclerotic cardiovascular disease, but the nature of this association was unclear. Methods We used whole-exome sequencing to detect the presence of CHIP in peripheral-blood cells and associated such presence with coronary heart disease using samples from four case-control studies that together enrolled 4726 participants with coronary heart disease and 3529 controls...
June 21, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28636169/a-novel-double-nucleotide-variant-in-the-ferritin-l-iron-responsive-element-in-a-finnish-patient-with-hereditary-hyperferritinaemia-cataract-syndrome
#8
Roosa-Maria Mattila, Annele Sainio, Marketta Järveläinen, Juha Pursiheimo, Hannu Järveläinen
PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS). METHODS: Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5'-untranslated region of the FTL was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal FTL IRE mutations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#9
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635418/infantile-spasms-and-injuries-of-prematurity-short-term-treatment-based-response-and-long-term-outcomes
#10
Adam Wallace, Victoria Allen, Kristen Park, Kelly Knupp
The association of infantile spasms and periventricular leukomalacia and/or intraventricular hemorrhage is well documented. Data regarding early treatment-based and long-term outcomes are limited. A retrospective chart review identified children with infantile spasms born prematurely (<37 weeks) with diagnoses of periventricular leukomalacia and/or intraventricular hemorrhage. Thirteen children were included. Median gestational age was 30 weeks and age of onset of infantile spasms was 8 months. Nine children had intraventricular hemorrhage, 10 had periventricular leukomalacia, and 6 children had both...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28634594/pancreatic-cancer-heralded-by-worsening-glycemic-control-a-report-of-two-cases
#11
Dimpi Desai, Devika Rao, Vineeth Sukrithan, Eleanor Weinstein, Akankasha Goyal, Ulrich Schubart
Pancreatic ductal adenocarcinoma is the third leading cause of cancer-related death in the United States. Since it is usually diagnosed at an advanced stage, its prognosis remains poor. The initial presentation varies according to the tumor location. The most common presenting signs are weight loss, jaundice, and pain. Several epidemiological, clinical, and experimental studies over the past 2 decades have shown that long-standing diabetes is a modest risk factor for pancreatic cancer. However, new-onset diabetes has also been observed to be an early manifestation of pancreatic cancer...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28634109/cannabis-associated-psychosis-neural-substrate-and-clinical-impact
#12
REVIEW
R M Murray, A Englund, A Abi-Dargham, D Lewis, M Di Forti, C Davies, M Sherif, P McGuire, C D'Souza
Prospective epidemiological studies have consistently demonstrated that cannabis use is associated with an increased subsequent risk of both psychotic symptoms and schizophrenia-like psychoses. Early onset of use, daily use of high-potency cannabis, and synthetic cannabinoids carry the greatest risk. The risk-increasing effects are not explained by shared genetic predisposition between schizophrenia and cannabis use. Experimental studies in healthy humans show that cannabis and its active ingredient, delta-9-tetrahydrocannabinol (THC), can produce transient, dose-dependent, psychotic symptoms, as well as an array of psychosis-relevant behavioral, cognitive and psychophysiological effects; the psychotogenic effects can be ameliorated by cannabidiol (CBD)...
June 17, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28634075/mint3-in-bone-marrow-derived-cells-promotes-lung-metastasis-in-breast-cancer-model-mice
#13
Toshiro Hara, Yoshinori Murakami, Motoharu Seiki, Takeharu Sakamoto
Breast cancer is one of the most common cancers in women in the world. Although breast cancer is well treatable at the early stage, patients with distant metastases show a poor prognosis. Data from recent studies using transplantation models indicate that Mint3/APBA3 might promote breast cancer malignancy. However, whether Mint3 indeed contributes to tumor development, progression, or metastasis in vivo remains unclear. To address this, here we examined whether Mint3 depletion affects tumor malignancy in MMTV-PyMT breast cancer model mice...
June 17, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28633864/perinatal-group-b-streptococcal-infections-virulence-factors-immunity-and-prevention-strategies
#14
REVIEW
Jay Vornhagen, Kristina M Adams Waldorf, Lakshmi Rajagopal
Group B streptococcus (GBS) or Streptococcus agalactiae is a β-hemolytic, Gram-positive bacterium that is a leading cause of neonatal infections. GBS commonly colonizes the lower gastrointestinal and genital tracts and, during pregnancy, neonates are at risk of infection. Although intrapartum antibiotic prophylaxis during labor and delivery has decreased the incidence of early-onset neonatal infection, these measures do not prevent ascending infection that can occur earlier in pregnancy leading to preterm births, stillbirths, or late-onset neonatal infections...
June 17, 2017: Trends in Microbiology
https://www.readbyqxmd.com/read/28633389/multiple-soluble-tgf-%C3%AE-receptors-in-addition-to-soluble-endoglin-are-elevated-in-preeclamptic-serum-and-they-synergistically-inhibit-tgf-%C3%AE-signalling
#15
Yao Wang, Qi Chen, Min Zhao, Kelly Walton, Craig Harrison, Guiying Nie
Context: Preeclampsia (PE) can be classified into early-onset (<34wk of gestation) and late-onset (>34wk) subtypes. Soluble endoglin, an auxiliary receptor for TGF-β ligands, is increased in PE circulation and believed to inhibit TGF-β action by sequestering the ligands. However, soluble endoglin, with a low affinity to TGF-β ligands, is demonstrated to have little effect by itself on TGF-β action. Objectives: We examined whether multiple soluble TGF-β receptors are elevated in PE circulation and whether they synergistically block TGF-β signalling...
June 14, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28633377/emerging-mechanisms-of-aminoacyl-trna-synthetase-mutations-in-recessive-and-dominant-human-disease
#16
Rebecca Meyer-Schuman, Anthony Antonellis
Aminoacyl-tRNA synthetases (ARSs) are responsible for charging amino acids to cognate tRNA molecules, which is the essential first step of protein translation. Interestingly, mutations in genes encoding ARS enzymes have been implicated in a broad spectrum of human inherited diseases. Bi-allelic mutations in ARSs typically cause severe, early-onset, recessive diseases that affect a wide range of tissues. The vast majority of these mutations show loss-of-function effects and impair protein translation. However, it is not clear how a subset cause tissue-specific phenotypes...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28633376/keeping-things-in-balance-family-experiences-of-living-with-alzheimer-s-disease
#17
Nuria Esandi, Mike Nolan, Cristina Alfaro, Ana Canga-Armayor
Background and Objectives: Historically, research, practice, and policy on Alzheimer's family care has been largely focused on dyadic relationships and the experience of burden and stress, often failing to capture the complex caring dynamics as they unfold over time. This study sought to develop a more nuanced understanding of how people with Alzheimer's disease (AD) and their families are affected by the disease and how they respond to the challenges AD poses. Research Design and Methods: Using constructivist grounded theory, the study explored the experiences of living with AD for native Spanish families residing in Navarra...
June 15, 2017: Gerontologist
https://www.readbyqxmd.com/read/28633054/men-and-women-with-psychosis-and-the-impact-of-illness-duration-on-sex-differences-the-second-australian-national-survey-of-psychosis
#18
Mary-Claire Hanlon, Linda E Campbell, Natalie Single, Clare Coleman, Vera A Morgan, Susan M Cotton, Helen J Stain, David J Castle
We aimed to examine and compare sex-differences in people receiving treatment for psychotic illnesses in community settings, based on long or short duration of illness; expecting association between longer illness-duration and worse outcomes in women and men. Clinical, demographic and service-use data from the Survey of High Impact Psychosis were analysed by sex and duration of illness (≤5 years; ≥6 years), using independent t-tests, chi-square tests, one-way ANOVA, and Cramer's V. Of the 1825 participants, 47% had schizophrenia, 17...
June 13, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28632880/the-urokinase-receptor-derived-peptide-uparant-recovers-dysfunctional-electroretinogram-and-blood-retinal-barrier-leakage-in-a-rat-model-of-diabetes
#19
Maurizio Cammalleri, Filippo Locri, Stefania Marsili, Massimo Dal Monte, Claudio Pisano, Angelo Mancinelli, Liliana Lista, Dario Rusciano, Mario De Rosa, Vincenzo Pavone, Paola Bagnoli
Purpose: The activation of the urokinase-type plasminogen activator and its receptor system is associated with retinal diseases. Among peptide inhibitors of this system, UPARANT acts by preventing the onset of pathologic signs of neovascular ocular diseases. We investigated whether systemic UPARANT may act in a therapeutic regimen by suppressing the retinal damage that characterizes diabetic retinopathy using a rat model of streptozotocin-induced diabetes. Methods: In healthy rats, plasma, eye, and retina concentrations of UPARANT were evaluated by mass spectrometry...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28632593/functional-and-radiographic-outcomes-following-growth-sparing-management-of-early-onset-scoliosis
#20
Charles E Johnston, Dong-Phuong Tran, Anna McClung
BACKGROUND: In this study, we sought to evaluate radiographic, functional, and quality-of-life outcomes of patients who have completed growth-sparing management of early-onset scoliosis. METHODS: This prospective study involved patients with early-onset scoliosis who underwent growth-sparing treatment and either "final" fusion or observation for ≥2 years since the last lengthening procedure. Demographics, radiographic parameters, pulmonary function test (PFT) values, and scores of patient-reported assessments (Early-Onset Scoliosis Questionnaire [EOSQ] and Scoliosis Research Society [SRS]-30) were obtained...
June 21, 2017: Journal of Bone and Joint Surgery. American Volume
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